TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Penon-Portmann, M; Hodoglugil, U; Arun P, W; Yip, T; Slavotinek, A; Tenney, JL.
American Journal of Medical Genetics, Part A.
2022.
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.
Fasano, G; Muto, V; Radio, FC; Venditti, M; Mosaddeghzadeh, N; Coppola, S; Paradisi, G; Zara, E; Bazgir, F; Ziegler, A; et al.
Nature Communications.
2022;
13.
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling, KM; Thompson, ML; Kelly, MA; Scollon, S; Slavotinek, AM; Powell, BC; Kirmse, BM; Hendon, LG; Brothers, KB; Korf, BR; et al.
Genome Medicine.
2022;
14.
Utility of genetic work-up for 46, XY patients with severe hypospadias.
Srivastava, P; Tenney, J; Lodish, M; Slavotinek, A; Baskin, L.
Journal of Pediatric Urology.
2022.
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.
Stallworth, JY; Blair, DR; Slavotinek, A; Moore, AT; Duncan, JL; de Alba Campomanes, AG.
Ophthalmic Genetics.
2022;
1-5.
Targeting the Complement-Sphingolipid System in COVID-19 and Gaucher Diseases: Evidence for a New Treatment Strategy.
Trivedi, VS; Magnusen, AF; Rani, R; Marsili, L; Slavotinek, AM; Prows, DR; Hopkin, RJ; McKay, MA; Pandey, MK.
International Journal of Molecular Sciences.
2022;
23.
Predicting genes from phenotypes using human phenotype ontology (HPO) terms.
Slavotinek, A; Prasad, H; Yip, T; Rego, S; Hoban, H; Kvale, M.
Human Genetics.
2022;
141:1749-1760.
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
Ferket, BS; Baldwin, Z; Murali, P; Pai, A; Mittendorf, KF; Russell, HV; Chen, F; Lynch, FL; Lich, KH; Hindorff, LA; et al.
Genetics in Medicine.
2022;
24:2014-2027.
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
Riedhammer, KM; Burgemeister, AL; Cantagrel, V; Amiel, J; Siquier-Pernet, K; Boddaert, N; Hertecant, J; Kannouche, PL; Pouvelle, C; Htun, S; et al.
Human Molecular Genetics.
2022;
31:3083-3094.
Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
Modlin, EW; Slavotinek, AM; Darling, TN; Lipkowitz, S; Barr, FG; Munster, PN; Biesecker, LG; Ours, CA.
American Journal of Medical Genetics, Part A.
2022;
188:2766-2771.